Why do not you really need to test MTHFR gene variants?


Depression. Autism. Breast cancer. Alcoholism. Type 1 Diabetes Heart Disease What do they supposedly have in common? Many alternative health websites like to talk about a supposed link between these conditions and a gene called MTHFR… but there is no indisputable proof that the link really exists.

If you are not familiar with the MTHFR gene, it represents methylenetetrahydrofolate reductase, an enzyme that the body needs to treat certain substances. And if that does not work properly, many people think that it can cause all kinds of health problems, like the ones that have been mentioned, but this is an extremely simplistic way of thinking about the variations of MTHFR, and I I'll talk more about it. .

As an epidemiologist, this topic is not new to me. But the subject of variants and mutations of the MTHFR gene seems to be making its way into the well-being space.

I'm a researcher so I keep an eye on topics on the web, social media, and places like Mom's Forums for Health and Wellbeing. And I notice that the alarmist conversation around the variants of the MTHFR gene resurfaces from time to time.

I see discussions about the variants of the MTHFR gene and the health problems they cause, they appear almost Daily In some forums, I keep an eye on, as well as on new blog posts on natural and holistic wellness websites (which I would define as sites touting medical treatments that are not generally considered part of traditional medicine), warning that it is essential to get tested for a potential MTHFR anomaly. And that turns into a modern phone game.

In addition, a number of alternative medicine sites even offer products such as special vitamins or health programs for people with MTHFR variants, with some treatments costing thousands of dollars. A number of outlets also suggest that having a variant of the MTHFR gene is a contraindication to vaccination – and they use this statement (unverified) to justify vaccine avoidance.

The huge problem? There is no convincing or convincing scientific evidence that proves that all Variations in MTHFR are related to health problems. So, before you even ask if a variant of the MTHFR gene could affect you, here's what you really need to know about the gene and its role in your overall health.

What is the MTHFR gene and how does it work?

As I mentioned, its normal function is to produce an enzyme called methylenetetrahydrofolate reductase in the body. And there are some common variants, but they are not dangerous.

Methylenetetrahydrofolate reductase facilitates the processing of amino acids, which are the building blocks of the protein. More specifically, methylenetetrahydrofolate reductase converts homocysteine, an amino acid, into another methionine. This is important because if the body can not properly treat homocysteine, homocysteine ​​can build up in the body, a condition called homocystinuria, which can cause health problems. But we will get there.

Now, there are many individuals who have a variant of the MTHFR gene, which means that there is a certain amount of alteration in the DNA sequence that makes up this gene. But it's a common misconception that all The amount of change in DNA automatically implies that this variant will have health consequences.

For example, many people have two common MTHFR variants: C677T and A1298C. Although other variants exist, these two modifications are the best studied of the MTHFR gene and "are very common in the Caucasian population". Charis Eng, M.D., founding president of the Institute of Genomic Medicine at the Cleveland clinic, SELF says. It adds that these variants are present in about 40 percent of people.

Mr. Eng also explicitly refers to them as "variants" and not as "mutations", the latter suggesting harm, which is in fact very rarely observed in individuals carrying one of these two common variants. (Many websites / forums use these terms interchangeably, which is part of the problem, or do not specify whether they refer to a true mutation or talk about these common variants.) In fact, having a single copy of these variants does not match. t decrease the activity of the enzyme. "Homocysteine ​​levels have been measured in people with [one of these variants]and homocysteine ​​levels are normal in [those] individuals, "says Dr. Eng.

This is the key to examining the impact of common variants of MTHFR on a person's health: an individual can function well even with a lower than normal enzyme level, provided he or she has enough to perform his metabolic work of conservation. Homocysteine ​​level in a healthy range. Thus, most people with these common variants would never even know they have one without genetic testing because there are no obvious physical symptoms.

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We do not have definitive scientific research to suggest that these two variants of MTHFR have health effects.

To date, no large-scale, well-designed epidemiological study has shown that one or the other of these variants has the health effects that these health forums usually associate with them.

Suppose that MTHFR variants increase the risk of developing heart disease, for example: Some older research suggested than those with a certain amount of variation C677T may be at higher risk– while much more recent, larger and better structured research has actually found no proof of increased risk.

And there is thousands of studies that come and go like this with regard to hundreds of health conditions. It is easy for the media, and therefore for consumers, to focus on negative results, but it dispels inaccurate health concerns and information when the definitive science is not there.

There is one exception for which research is more consistent: some people with two copies of C677T may have high homocysteine, and the research shows that they could be risk of having a baby with a neural tube defect. But, again, this combination is rare. And for people who have high levels of homocysteine ​​(which will be determined in early pregnancy by a blood test), it is easy to treat with folate and / or vitamin B supplementation, and a doctor would help to guide the treatment.

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MTHFR mutationson the other hand, can cause health problems, but it is very rare.

For people who have a true MTHFR mutation, which means a genetic error important enough to cause clinical symptoms? "Extremely rare, unicorns," says Dr. Eng.

A serious mutation of MTHFR implies that the mutation makes the enzyme completely inactive. There is 40 or more of these mutations we know. In individuals carrying one of these mutations, the enzymatic deficiency it causes causes a potentially harmful accumulation of homocysteine ​​in the body, resulting in a disease state called homocystinuria. But again, this is not the case with all MTHFR variants, only these serious mutations. Approximate amount of 1 in 200,000 people worldwide homocystinuria, due to mutations in the MTHFR gene or another condition called CBS deficit.

Homocystinuria can lead to number of health problems if it is not treated, including developmental delays, seizures and difficulty gaining weight or gaining muscle. Because these problems can be serious, all states of the United States screen for homocystinuria in infants to enable early diagnosis and intervention. Also symptoms of homocystinuria usually associated with a MTHFR mutation (eg, seizures, neurological problems). For these reasons, it is highly unlikely that anyone with symptoms related to these clinically significant MTHFR mutations will be missed or undiagnosed. Diagnosed cases later than early childhood are possiblebut they are rare.

Getty / mspoint

So what should we do if they are still worried about having a MTHFR variant?

Because people with severe mutations of MTHFR are rare and genetic testing can cause a lot of unnecessary anxiety for people – the current guidelines of many professional organizations explicitly state that they do not approve the MTHFR test for their patients. This includes the American College of Medical Genetics and Genomics (ACMG), whose guidelines have been adopted by the American Academy of Family Physicians; the Society of Maternal and Fetal Medicine; and the American College of Obstetricians and Gynecologists.

Even the famous genetic testing company 23andMe do not recommend or propose tests for MTHFR variants. 23andMe says that, despite thousands of scientific publications examining common variants of MTHFR, "the evidence linking MTHFR to most of these health problems is inconclusive or contradictory". The company goes on to inform "that people should not interpret their genotypes using the common variants of MTHFR as having an effect on their health. "

For the majority of people with a common variant of MTHFR, they will not present any symptoms. And the overall health risks associated with a common variant are so low (or probably non-existent for many people) that they probably would not need special treatment either. In simple terms, having a variant of MTHFR does not mean that you need medical treatment.

That said, if you are asymptomatic but still curious, rather than choosing the genetic test path (unless you really want it and you make your choice), Dr. Eng suggests doing a blood test to check the levels. homocysteine, the true indicator of potential health problems. It's cheaper and he can tell you if something is wrong clinically. (Remember: clinically significant MTHFR gene mutations would be indicated by abnormally high homocysteine ​​levels.)

If your homocysteine ​​levels are abnormally high, the treatment is also simple and straightforward: folate supplementation. Increasing your folate through a supplement helps your body avoid the need for the methylene tetrahydrofolate reductase enzyme produced by the MTHFR gene, and therefore reduces homocysteine ​​levels. "The ordinary folate works; you do not need anything extraordinary, "notes Dr. Eng. Vitamins B such as B6 and B12 can also be recommended for some people. Your doctor can help you determine which treatment and supplementation is best for you.


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